Article
Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.
BMC pediatrics - 4 Jun 2018
Krauthammer Alexander, Lahad Avishay, Goldberg Lior, Sarouk Ifat, Weiss Batia, Somech Raz, Soudack Michalle, Pessach Itai M
Abstract excerpt
BACKGROUND: Ataxia telangiectasia (AT) is a rare, multi-systemic, genetic disorder. Mutations in the ATM gene cause dysfunction in cell-cycle, apoptosis and V (D) J recombination leading to neurodegeneration, cellular, humoral immunodeficiencies and predisposition to malignancies. Previous studies have suggested that a sub-group of AT patients with elevated IgM levels have a distinct and more severe phenotype. In...
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